KEGG   DISEASE: Ataxia with ocular apraxia
H00848                      Disease                                
Ataxia with ocular apraxia
Ataxia telangiectasia (AT) [DS:H00064]
Spinocerebellar degeneration [DS:H01616]
Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT), ataxia telangiectasia like disorder (ATLD), ataxia oculomotor apraxia type 1 (AOA1) and ataxia oculomotor apraxia type 2 (AOA2). AT, ATLD, and AOA1 are due to homozygous mutations in genes encoding a protein involved in DNA repair. Ophthalmic features of AT include conjunctival telangiectasia, strabismus, saccadic dysfunction with head thrusts, and convergence insufficiency. AOA1 is typically characterized by early-onset cerebellar ataxia, oculomotor apraxia, hypoalbuminemia, hypercholesterolemia and late axonal sensori-motor neuropathy. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which has been shown to play a role in the response to oxidative stress.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00848  Ataxia with ocular apraxia
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H00848  Ataxia with ocular apraxia
nt06504 Base excision repair
(AOA1) APTX [HSA:54840] [KO:K10863]
(AOA2) SETX [HSA:23064] [KO:K10706]
(AOA3) PIK3R5 [HSA:23533] [KO:K21290]
(AOA4) PNKP [HSA:11284] [KO:K08073]
Other DBs
ICD-11: 8A03.1Y
ICD-10: G11.3 G60.2
MeSH: C538013
OMIM: 208920 606002 615217 616267
Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA
Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
BMC Med Genet 12:27 (2011)
PMID:17572444 (AOA1)
Ferrarini M, Squintani G, Cavallaro T, Ferrari S, Rizzuto N, Fabrizi GM
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.
J Neurol Sci 260:219-24 (2007)
PMID:19515850 (AOA2)
Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF
Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
Hum Mol Genet 18:3384-96 (2009)
PMID:22065524 (AOA3)
Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Hum Mutat 33:351-4 (2012)
PMID:25728773 (AOA4)
Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Am J Hum Genet 96:474-9 (2015)

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